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a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq.
oculocerebrorenal syndromeLowe syndrome An X-R disorder that maps to chromosome Xq24-26 Clinical Congenital cataract, corneal ulceration, hydrophthalmia, glaucoma, mental retardation, renal tubular dysfunction-Fanconi syndrome, aminoaciduria, vitamin D-resistant rickets, areflexia, hypotonia, idiopathic joint swelling Lab Proteinuria, ↑ muscle enzymes, α2-globulin, HDL-C, metabolic acidosis Management Alkalinize urine; supplemental potassium, phosphate, calcium, carnitine
Lowe,Charles U., U.S. pediatrician, 1921–.
Lowe syndrome - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndrome
Lowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome